The eleventh reported case of Mulvihill-Smith syndrome in the literature

BACKGROUND: The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. CASE PRESENTATION: This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephal...

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Autores principales: Breinis, Paulo, Alves, Flavio Geraldes, Alves, Camila AE, Cintra, Rafael G, Almeida, Débora, Passarelli, Priscila C, Domingues, Camila, Gerbim, Talita, Gasparetto, Régia, de Abreu, Luiz Carlos, Valenti, Vitor E, de Oliveira, Adriana Gonçalves, de Mello Monteiro, Carlos Bandeira, Wajnzstejn, Rubens
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890486/
https://www.ncbi.nlm.nih.gov/pubmed/24397283
http://dx.doi.org/10.1186/1471-2377-14-4
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author Breinis, Paulo
Alves, Flavio Geraldes
Alves, Camila AE
Cintra, Rafael G
Almeida, Débora
Passarelli, Priscila C
Domingues, Camila
Gerbim, Talita
Gasparetto, Régia
de Abreu, Luiz Carlos
Valenti, Vitor E
de Oliveira, Adriana Gonçalves
de Mello Monteiro, Carlos Bandeira
Wajnzstejn, Rubens
author_facet Breinis, Paulo
Alves, Flavio Geraldes
Alves, Camila AE
Cintra, Rafael G
Almeida, Débora
Passarelli, Priscila C
Domingues, Camila
Gerbim, Talita
Gasparetto, Régia
de Abreu, Luiz Carlos
Valenti, Vitor E
de Oliveira, Adriana Gonçalves
de Mello Monteiro, Carlos Bandeira
Wajnzstejn, Rubens
author_sort Breinis, Paulo
collection PubMed
description BACKGROUND: The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. CASE PRESENTATION: This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed. CONCLUSIONS: Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.
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spelling pubmed-38904862014-01-15 The eleventh reported case of Mulvihill-Smith syndrome in the literature Breinis, Paulo Alves, Flavio Geraldes Alves, Camila AE Cintra, Rafael G Almeida, Débora Passarelli, Priscila C Domingues, Camila Gerbim, Talita Gasparetto, Régia de Abreu, Luiz Carlos Valenti, Vitor E de Oliveira, Adriana Gonçalves de Mello Monteiro, Carlos Bandeira Wajnzstejn, Rubens BMC Neurol Case Report BACKGROUND: The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. CASE PRESENTATION: This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed. CONCLUSIONS: Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome. BioMed Central 2014-01-07 /pmc/articles/PMC3890486/ /pubmed/24397283 http://dx.doi.org/10.1186/1471-2377-14-4 Text en Copyright © 2014 Breinis et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Breinis, Paulo
Alves, Flavio Geraldes
Alves, Camila AE
Cintra, Rafael G
Almeida, Débora
Passarelli, Priscila C
Domingues, Camila
Gerbim, Talita
Gasparetto, Régia
de Abreu, Luiz Carlos
Valenti, Vitor E
de Oliveira, Adriana Gonçalves
de Mello Monteiro, Carlos Bandeira
Wajnzstejn, Rubens
The eleventh reported case of Mulvihill-Smith syndrome in the literature
title The eleventh reported case of Mulvihill-Smith syndrome in the literature
title_full The eleventh reported case of Mulvihill-Smith syndrome in the literature
title_fullStr The eleventh reported case of Mulvihill-Smith syndrome in the literature
title_full_unstemmed The eleventh reported case of Mulvihill-Smith syndrome in the literature
title_short The eleventh reported case of Mulvihill-Smith syndrome in the literature
title_sort eleventh reported case of mulvihill-smith syndrome in the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890486/
https://www.ncbi.nlm.nih.gov/pubmed/24397283
http://dx.doi.org/10.1186/1471-2377-14-4
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